List of works - Natalia Gomez-Ospina

A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells

scientific article published on 06 August 2018

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.

scientific article

A promoter in the coding region of the calcium channel gene CACNA1C generates the transcription factor CCAT.

scientific article

Author Correction: Engineering monocyte/macrophage-specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

scientific article published on 20 August 2020

Building a Professional Identity and an Academic Career Track in Translational Medicine

scientific article published on 03 July 2019

CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells

scientific article published on 04 May 2019

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

scientific article published on 12 January 2016

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

scientific article published on 02 July 2019

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

scientific journal article

Engineering monocyte/macrophage-specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

scientific article published on 03 July 2020

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine

scientific article published on 3 August 2016

Gene Editing on Center Stage

article

Genome Editing for Mucopolysaccharidoses

scientific article published on 13 January 2020

Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

scientific article published on 06 September 2019

Identification of preexisting adaptive immunity to Cas9 proteins in humans

scientific article published on 28 January 2019

Molecular and clinical spectra of FBXL4 deficiency.

scientific article published on 22 September 2017

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

scientific article published in October 2017

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

scientific article published on 14 September 2021

Respiratory system involvement in Costello syndrome.

scientific article

Selective trafficking of non-cell-autonomous proteins mediated by NtNCAPP1.

scientific article

State-dependent signaling by Cav1.2 regulates hair follicle stem cell function

scientific article published in June 2013

The C terminus of the L-type voltage-gated calcium channel Ca(V)1.2 encodes a transcription factor

scientific article published on November 2006

Tomographic evidence for continuous turnover of Golgi cisternae in Pichia pastoris

scientific article

Translocation Affecting Sonic Hedgehog Genes in Basal-Cell Carcinoma ⬇️

scientific article published on June 7, 2012

List of works by Natalia Gomez-Ospina

A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.

A promoter in the coding region of the calcium channel gene CACNA1C generates the transcription factor CCAT.

Author Correction: Engineering monocyte/macrophage-specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

Building a Professional Identity and an Academic Career Track in Translational Medicine

CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Engineering monocyte/macrophage-specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine

Gene Editing on Center Stage

Genome Editing for Mucopolysaccharidoses

Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

Identification of preexisting adaptive immunity to Cas9 proteins in humans

Molecular and clinical spectra of FBXL4 deficiency.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Respiratory system involvement in Costello syndrome.

Selective trafficking of non-cell-autonomous proteins mediated by NtNCAPP1.

State-dependent signaling by Cav1.2 regulates hair follicle stem cell function

The C terminus of the L-type voltage-gated calcium channel Ca(V)1.2 encodes a transcription factor

Tomographic evidence for continuous turnover of Golgi cisternae in Pichia pastoris

Translocation Affecting Sonic Hedgehog Genes in Basal-Cell Carcinoma ⬇️